"Ambry Genetics"[submitter] AND "CYP4A11"[gene] - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2221352	NM_000778.4(CYP4A11):c.1513C>G (p.Arg505Gly)	CYP4A11 (R407G +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2298218	NM_000778.4(CYP4A11):c.1474G>T (p.Ala492Ser)	CYP4A11 (A492S +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2278826	NM_000778.4(CYP4A11):c.1189G>T (p.Val397Phe)	CYP4A11 (V365F +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2243927	NM_000778.4(CYP4A11):c.1154C>T (p.Pro385Leu)	CYP4A11 (P287L +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2233885	NM_000778.4(CYP4A11):c.1085C>T (p.Thr362Ile)	CYP4A11 (T362I +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2340094	NM_000778.4(CYP4A11):c.1081A>C (p.Ile361Leu)	CYP4A11 (I361L +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2310312	NM_000778.4(CYP4A11):c.1067G>A (p.Gly356Asp)	CYP4A11 (G324D +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2399277	NM_000778.4(CYP4A11):c.1021C>A (p.Pro341Thr)	CYP4A11 (P309T +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2303640	NM_000778.4(CYP4A11):c.935G>A (p.Arg312His)	CYP4A11 (R280H +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2305252	NM_000778.4(CYP4A11):c.748C>T (p.Arg250Cys)	CYP4A11 (R218C +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2508647	NM_000778.4(CYP4A11):c.731G>A (p.Ser244Asn)	CYP4A11 (S244N)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 2207096	NM_000778.4(CYP4A11):c.548T>C (p.Leu183Pro)	CYP4A11 (L183P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2388888	NM_000778.4(CYP4A11):c.509T>C (p.Leu170Pro)	CYP4A11 (L170P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2412035	NM_000778.4(CYP4A11):c.430C>T (p.Arg144Trp)	CYP4A11 (R144W)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2588486	NM_000778.4(CYP4A11):c.268C>A (p.Leu90Ile)	CYP4A11 (L90I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2356135	NM_000778.4(CYP4A11):c.259C>G (p.Pro87Ala)	CYP4A11 (P87A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2295883	NM_000778.4(CYP4A11):c.122G>A (p.Arg41Lys)	CYP4A11 (R41K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance